Canonical Allele Identifier: CA9871786

Gene: ADA

Linked Data

• ClinVar Variation Id: 1085761
• ClinVar RCV Id: RCV001403276
• dbSNP Id: rs762695968
• ExAC: 20:43264906 G / A
• gnomAD v2: 20-43264906-G-A
• gnomAD v3: 20-44636265-G-A
• gnomAD v4: 20-44636265-G-A
• MyVariant Identifiers: chr20:g.43264906G>A (hg19) ; chr20:g.44636265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44636265G>A , CM000682.2:g.44636265G>A	GRCh38
NC_000020.10:g.43264906G>A , CM000682.1:g.43264906G>A	GRCh37
NC_000020.9:g.42698320G>A	NCBI36
NG_007385.1:g.20471C>T , LRG_16:g.20471C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000492931.6:n.148C>T
ENST00000536076.2:c.-97C>T	ENSP00000512234.1:n.-97C>T
ENST00000536532.6:c.57C>T	ENSP00000440946.1:p.Asp19=
ENST00000537820.2:c.57C>T	ENSP00000441818.1:p.Asp19=
ENST00000539235.6:c.57C>T	ENSP00000446464.1:p.Asp19=
ENST00000695889.1:c.57C>T	ENSP00000512240.1:p.Asp19=
ENST00000695891.1:c.57C>T	ENSP00000512241.1:p.Asp19=
ENST00000695927.1:c.135C>T	ENSP00000512270.1:p.Asp45=
ENST00000695949.1:c.57C>T	ENSP00000512281.1:p.Asp19=
ENST00000695957.1:c.57C>T	ENSP00000512286.1:p.Asp19=
ENST00000695991.1:c.57C>T	ENSP00000512314.1:p.Asp19=
ENST00000695992.1:c.57C>T	ENSP00000512315.1:p.Asp19=
ENST00000695993.1:c.57C>T	ENSP00000512316.1:p.Asp19=
ENST00000695994.1:c.57C>T	ENSP00000512317.1:p.Asp19=
ENST00000695995.1:c.57C>T	ENSP00000512318.1:p.Asp19=
ENST00000695996.1:n.128C>T
ENST00000695997.1:n.128C>T
ENST00000696003.1:n.149C>T
ENST00000696004.1:n.149C>T
ENST00000696006.1:c.57C>T	ENSP00000512325.1:p.Asp19=
ENST00000696007.1:c.24C>T	ENSP00000512326.1:p.Asp8=
ENST00000696009.1:n.168C>T
ENST00000696010.1:n.170C>T
ENST00000696017.1:c.57C>T	ENSP00000512333.1:p.Asp19=
ENST00000696034.1:c.57C>T	ENSP00000512343.1:p.Asp19=
ENST00000696038.1:c.57C>T	ENSP00000512344.1:p.Asp19=
ENST00000696039.1:n.345C>T
ENST00000696058.1:c.57C>T	ENSP00000512361.1:p.Asp19=
ENST00000696059.1:c.*2C>T	ENSP00000512362.1:n.*2C>T
ENST00000696060.1:c.57C>T	ENSP00000512363.1:p.Asp19=
ENST00000696061.1:c.57C>T	ENSP00000512364.1:p.Asp19=
ENST00000696062.1:c.120C>T	ENSP00000512365.1:p.Asp40=
ENST00000696063.1:c.132C>T	ENSP00000512366.1:p.Asp44=
ENST00000696064.1:c.-94C>T	ENSP00000512367.1:n.-94C>T
ENST00000696065.1:c.-97C>T	ENSP00000512368.1:n.-97C>T
ENST00000696075.1:c.57C>T	ENSP00000512374.1:p.Asp19=
ENST00000696076.1:c.57C>T	ENSP00000512375.1:p.Asp19=
ENST00000696077.1:c.57C>T	ENSP00000512376.1:p.Asp19=
ENST00000696078.1:c.57C>T	ENSP00000512377.1:p.Asp19=
ENST00000696079.1:c.57C>T	ENSP00000512378.1:p.Asp19=
ENST00000696080.1:c.57C>T	ENSP00000512379.1:p.Asp19=
ENST00000696082.1:c.135C>T	ENSP00000512380.1:p.Asp45=
ENST00000696084.1:n.158C>T
ENST00000696104.1:c.57C>T	ENSP00000512399.1:p.Asp19=
ENST00000696105.1:c.57C>T	ENSP00000512400.1:p.Asp19=
ENST00000372874.9:c.57C>T MANE Select	ENSP00000361965.4:p.Asp19=
ENST00000372874.8:c.57C>T	ENSP00000361965.4:p.Asp19=
ENST00000492931.5:n.141C>T
ENST00000535573.1:n.356C>T
ENST00000536076.1:n.237C>T
ENST00000536532.5:c.57C>T	ENSP00000440946.1:p.Asp19=
ENST00000537820.1:c.57C>T	ENSP00000441818.1:p.Asp19=
ENST00000539235.5:c.57C>T	ENSP00000446464.1:p.Asp19=
ENST00000545776.5:n.111C>T
NM_000022.2:c.57C>T , LRG_16t1:c.57C>T	NP_000013.2:p.Asp19=
XM_005260236.2:c.57C>T	XP_005260293.1:p.Asp19=
XM_011528478.1:c.-233C>T	XP_011526780.1:n.-233C>T
XM_011528479.1:c.-233C>T	XP_011526781.1:n.-233C>T
XR_244129.1:n.111C>T
NM_000022.3:c.57C>T	NP_000013.2:p.Asp19=
NM_001322050.1:c.-233C>T	NP_001308979.1:n.-233C>T
NM_001322051.1:c.57C>T	NP_001308980.1:p.Asp19=
NR_136160.1:n.208C>T
NM_000022.4:c.57C>T MANE Select	NP_000013.2:p.Asp19=
NM_001322050.2:c.-233C>T	NP_001308979.1:n.-233C>T
NM_001322051.2:c.57C>T	NP_001308980.1:p.Asp19=
NR_136160.2:n.149C>T